Canonical Allele Identifier: CA7268425

Gene: LTBP2

Linked Data

• dbSNP Id: rs549156119
• ExAC: 14:74967706 C / G
• gnomAD v2: 14-74967706-C-G
• gnomAD v4: 14-74501003-C-G
• MyVariant Identifiers: chr14:g.74967706C>G (hg19) ; chr14:g.74501003C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.74501003C>G , CM000676.2:g.74501003C>G	GRCh38
NC_000014.8:g.74967706C>G , CM000676.1:g.74967706C>G	GRCh37
NC_000014.7:g.74037459C>G	NCBI36
NG_021486.1:g.116329G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261978.9:c.5347G>C MANE Select	ENSP00000261978.4:p.Gly1783Arg
ENST00000261978.8:c.5347G>C	ENSP00000261978.4:p.Gly1783Arg
ENST00000553939.5:c.*126G>C	ENSP00000452110.1:n.*126G>C
ENST00000554861.1:n.565G>C
ENST00000556690.5:c.5215G>C	ENSP00000451477.1:p.Gly1739Arg
NM_000428.2:c.5347G>C	NP_000419.1:p.Gly1783Arg
XM_011536765.1:c.4966G>C	XP_011535067.1:p.Gly1656Arg
XM_011536766.1:c.4888G>C	XP_011535068.1:p.Gly1630Arg
XM_011536767.1:c.4864G>C	XP_011535069.1:p.Gly1622Arg
XM_011536765.2:c.4966G>C	XP_011535067.1:p.Gly1656Arg
NM_000428.3:c.5347G>C MANE Select	NP_000419.1:p.Gly1783Arg